MMADHC Premature Termination Codons in the Pathogenesis of Cobalamin D Disorder: Potential of Translational Readthrough Reconstitution
Molecular Genetics and Metabolism Reports（2021）
Key words
Methylmalonic aciduria,Homocystinuria,cblD,MMADHC,Translational readthrough,Premature termination codon,Stop codon
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